Canonical Allele Identifier: CA3146896

Gene: AGA

Linked Data

• dbSNP Id: rs772303261
• ExAC: 4:178358667 T / A
• gnomAD v3: 4-177437513-T-A
• gnomAD v4: 4-177437513-T-A
• MyVariant Identifiers: chr4:g.178358667T>A (hg19) ; chr4:g.177437513T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.177437513T>A , CM000666.2:g.177437513T>A	GRCh38
NC_000004.11:g.178358667T>A , CM000666.1:g.178358667T>A	GRCh37
NC_000004.10:g.178595661T>A	NCBI36
NG_011845.2:g.9991A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264595.7:c.514A>T MANE Select	ENSP00000264595.2:p.Ile172Leu
ENST00000264595.6:c.514A>T	ENSP00000264595.2:p.Ile172Leu
ENST00000502310.5:c.169A>T	ENSP00000423798.1:p.Ile57Leu
ENST00000506853.5:n.548A>T
ENST00000510635.1:c.210A>T
ENST00000510955.5:n.435A>T
NM_000027.3:c.514A>T	NP_000018.2:p.Ile172Leu
NM_001171988.1:c.514A>T	NP_001165459.1:p.Ile172Leu
NR_033655.1:n.642A>T
XM_006714123.2:c.514A>T	XP_006714186.1:p.Ile172Leu
XR_001741155.2:n.608A>T
NM_000027.4:c.514A>T MANE Select	NP_000018.2:p.Ile172Leu
NM_001171988.2:c.514A>T	NP_001165459.1:p.Ile172Leu
NR_033655.2:n.576A>T